Cell Culture Ontology

Last uploaded: July 23, 2014
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Preferred Name

obsolete_Rothmund-Thomson syndrome type 2
Synonyms

Poikiloderma of Rothmund-Thomson type 2

RTS2
Definitions

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
ID

http://www.orpha.net/ORDO/Orphanet_221016
Obsolete

true
database_cross_reference

ICD10:Q82.8
definition

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS; see this term) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.
definition_citation

orphanet
deprecated

true
has_exact_synonym

Poikiloderma of Rothmund-Thomson type 2

RTS2
label

obsolete_Rothmund-Thomson syndrome type 2
obsoleted_in_version

3.41.0
preferred label

obsolete_Rothmund-Thomson syndrome type 2
prefLabel

obsolete_Rothmund-Thomson syndrome type 2
reason_for_obsolescence

Replaced with Mondo term.
term replaced by

http://purl.obolibrary.org/obo/MONDO_0016369
subClassOf

http://www.w3.org/2002/07/owl#Thing
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